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LNPK lunapark, ER junction formation factor [ Homo sapiens (human) ]

Gene ID: 80856, updated on 3-Apr-2024

Summary

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Official Symbol
LNPKprovided by HGNC
Official Full Name
lunapark, ER junction formation factorprovided by HGNC
Primary source
HGNC:HGNC:21610
See related
Ensembl:ENSG00000144320 MIM:610236; AllianceGenome:HGNC:21610
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Ul; LNP; LNP1; NEDEHCC; KIAA1715; ulnaless
Summary
Enables identical protein binding activity. Involved in endoplasmic reticulum tubular network maintenance and positive regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum tubular network membrane and nucleoplasm. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 7.2), colon (RPKM 5.9) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
2q31.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (175923882..176002820, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (176411993..176500878, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176788610..176867548, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985962 Neighboring gene uncharacterized LOC124907909 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:176699169-176699670 Neighboring gene exostosin like glycosyltransferase 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16788 Neighboring gene thymosin beta-4-like Neighboring gene uncharacterized LOC107985830

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Lunapark-dependent formation of a virus-induced ER exit site contains multi-tubular ER junctions that promote viral ER-to-cytosol escape. Bagchi P, et al. Cell Rep, 2021 Dec 7. PMID 34879280, Free PMC Article
  2. Roles of the Endogenous Lunapark Protein during Flavivirus Replication. Tran PT, et al. Viruses, 2021 Jun 22. PMID 34206552, Free PMC Article
  3. Reciprocal regulation between lunapark and atlastin facilitates ER three-way junction formation. Zhou X, et al. Protein Cell, 2019 Jul. PMID 30498943, Free PMC Article
  4. A model for the generation and interconversion of ER morphologies. Shemesh T, et al. Proc Natl Acad Sci U S A, 2014 Dec 9. PMID 25404289, Free PMC Article
  5. CAND1 regulates lunapark for the proper tubular network of the endoplasmic reticulum. Kajiho H, et al. Sci Rep, 2019 Sep 11. PMID 31511573, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lunapark-dependent formation of a virus-induced ER exit site contains multi-tubular ER junctions that promote viral ER-to-cytosol escape.
    Title: Lunapark-dependent formation of a virus-induced ER exit site contains multi-tubular ER junctions that promote viral ER-to-cytosol escape.
  2. Roles of the Endogenous Lunapark Protein during Flavivirus Replication.
    Title: Roles of the Endogenous Lunapark Protein during Flavivirus Replication.
  3. Ubiquitylation of the ER-Shaping Protein Lunapark via the CRL3(KLHL12) Ubiquitin Ligase Complex.
    Title: Ubiquitylation of the ER-Shaping Protein Lunapark via the CRL3(KLHL12) Ubiquitin Ligase Complex.
  4. CAND1 regulates lunapark for the proper tubular network of the endoplasmic reticulum.
    Title: CAND1 regulates lunapark for the proper tubular network of the endoplasmic reticulum.
  5. The proposed mechanism ensures coordinated actions of ATL and Lnp in generating and maintaining three-way junctions.
    Title: Reciprocal regulation between lunapark and atlastin facilitates ER three-way junction formation.
  6. LNPK was expressed during brain development.
    Title: Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
  7. Despite its interaction with gp78, Lnp does not seem to have a broad function in degradation of misfolded ER proteins.
    Title: Lunapark Is a Component of a Ubiquitin Ligase Complex Localized to the Endoplasmic Reticulum Three-way Junctions.
  8. used live cell imaging to show that mammalian Lnp1 affects endoplasmic reticulum junction mobility and hence network dynamics
    Title: Lunapark stabilizes nascent three-way junctions in the endoplasmic reticulum.
  9. Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark.
    Title: Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark, an integral membrane protein of the endoplasmic reticulum.
  10. Propose that Lnp1p and Sey1p act antagonistically to balance endoplasmic reticular polygonal network formation.
    Title: ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
MedGen: C4748137 OMIM: 618090 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study of periodontal pathogen colonization.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC102862, DKFZp686G1442

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in blood coagulation IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in endoplasmic reticulum organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum tubular network maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum tubular network organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in limb development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum tubular network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum tubular network membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
endoplasmic reticulum junction formation protein lunapark
Names
2310011O18Rik
4921514L11Rik
ER junction formation factor lunapark
limb and neural patterns
protein lunapark

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001305008.1 → NP_001291937.1  endoplasmic reticulum junction formation protein lunapark isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB051502, AC016751, AK056532, CR936742, DC351745
    UniProtKB/TrEMBL
    B7ZLA9
    Conserved Domains (2) summary
    PHA03247
    Location:216 → 317
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:321 → 371
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

  2. NM_001305009.1 → NP_001291938.1  endoplasmic reticulum junction formation protein lunapark isoform 2

    See identical proteins and their annotated locations for NP_001291938.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end and contains an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus and contains an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC016751, BC143681, CR936742, DC351745
    Consensus CDS
    CCDS77489.1
    UniProtKB/Swiss-Prot
    Q9C0E8
    Related
    ENSP00000440905.1, ENST00000544803.5
    Conserved Domains (2) summary
    PHA03247
    Location:151 → 281
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:286 → 336
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

  3. NM_001305010.1 → NP_001291939.1  endoplasmic reticulum junction formation protein lunapark isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate splice junctions in the 5' end and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC016751, AK302833, CR936742, DC351745
    UniProtKB/TrEMBL
    B7ZLA9
    Conserved Domains (2) summary
    PHA03247
    Location:152 → 253
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:257 → 307
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

  4. NM_001305011.2 → NP_001291940.1  endoplasmic reticulum junction formation protein lunapark isoform 5

    See identical proteins and their annotated locations for NP_001291940.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice junction in the 5' end and lacks two alternate 5' exons compared to variant 1.The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC016751, BC110329, CR936742
    Consensus CDS
    CCDS77488.1
    UniProtKB/TrEMBL
    B7Z829
    Related
    ENSP00000386237.1, ENST00000409660.5
    Conserved Domains (2) summary
    PHA03247
    Location:27 → 128
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:132 → 182
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

  5. NM_030650.3 → NP_085153.1  endoplasmic reticulum junction formation protein lunapark isoform 4

    See identical proteins and their annotated locations for NP_085153.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC016751, CR936742, DC351745
    Consensus CDS
    CCDS33332.1
    UniProtKB/Swiss-Prot
    B7ZLA8, Q2M2V8, Q2YD99, Q658W8, Q8N5V9, Q96MS5, Q9C0E8
    UniProtKB/TrEMBL
    B7Z829
    Related
    ENSP00000272748.4, ENST00000272748.9
    Conserved Domains (2) summary
    PHA03247
    Location:150 → 251
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:255 → 305
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

RNA

  1. NR_130941.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has several differences in the 5' end and 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC016751, AK301947, CR936742, DB052862

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    175923882..176002820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712783.3 → XP_006712846.1  endoplasmic reticulum junction formation protein lunapark isoform X1

    See identical proteins and their annotated locations for XP_006712846.1

    UniProtKB/Swiss-Prot
    B7ZLA8, Q2M2V8, Q2YD99, Q658W8, Q8N5V9, Q96MS5, Q9C0E8
    UniProtKB/TrEMBL
    B7Z829
    Conserved Domains (2) summary
    PHA03247
    Location:150 → 251
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:255 → 305
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

  2. XM_005246878.5 → XP_005246935.1  endoplasmic reticulum junction formation protein lunapark isoform X2

    Conserved Domains (2) summary
    pfam10058
    Location:255 → 305
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein
    cl22974
    Location:156 → 263
    HpaP; Type III secretion protein (HpaP)

  3. XM_005246879.5 → XP_005246936.1  endoplasmic reticulum junction formation protein lunapark isoform X3

    See identical proteins and their annotated locations for XP_005246936.1

    UniProtKB/TrEMBL
    B7Z829
    Conserved Domains (1) summary
    pfam10058
    Location:180 → 230
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

  4. XM_047445937.1 → XP_047301893.1  endoplasmic reticulum junction formation protein lunapark isoform X3

  5. XM_005246880.4 → XP_005246937.1  endoplasmic reticulum junction formation protein lunapark isoform X4

    UniProtKB/TrEMBL
    B7Z829
    Conserved Domains (2) summary
    PHA03247
    Location:32 → 133
    PHA03247; large tegument protein UL36; Provisional
    pfam10058
    Location:137 → 187
    zinc_ribbon_10; Predicted integral membrane zinc-ribbon metal-binding protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    176411993..176500878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344080.1 → XP_054200055.1  endoplasmic reticulum junction formation protein lunapark isoform X1

    UniProtKB/Swiss-Prot
    B7ZLA8, Q2M2V8, Q2YD99, Q658W8, Q8N5V9, Q96MS5, Q9C0E8

  2. XM_054344081.1 → XP_054200056.1  endoplasmic reticulum junction formation protein lunapark isoform X2

  3. XM_054344083.1 → XP_054200058.1  endoplasmic reticulum junction formation protein lunapark isoform X3

  4. XM_054344082.1 → XP_054200057.1  endoplasmic reticulum junction formation protein lunapark isoform X3

  5. XM_054344084.1 → XP_054200059.1  endoplasmic reticulum junction formation protein lunapark isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0E8.2 GenPept UniProtKB/Swiss-Prot:Q9C0E8

Gene LinkOut

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